Inherited bleeding disorders
Gene: STXBP2EnsemblGeneIds (GRCh38): ENSG00000076944
EnsemblGeneIds (GRCh37): ENSG00000076944
OMIM: 601717, Gene2Phenotype
STXBP2 is in 9 panels
2 reviews
Louise Daugherty (Genomics England Curator)
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Familial hemophagocytic lymphohistiocytosis type 5
Publications
BRIDGE consortium (NIHRBR-RD)
Only gives a BPD is missense in ATPase domain 218, 219 and 220 ; actually also GOF . As of January 2016 : Published in JCI by Watson group under PMID: 26280575;Created: 19 Dec 2016, 11:18 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Familial hemophagocytic lymphohistiocytosis type 5
Publications
Mode of pathogenicity
Other - please provide details in the comments
Variants in this GENE are reported as part of current diagnostic practice
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- BRIDGE Study Tier 1 Gene
- Phenotypes
-
- Familial hemophagocytic lymphohistiocytosis type 5
- OMIM
- 601717
- Clinvar variants
- Variants in STXBP2
- Penetrance
- Complete
- Panels with this gene
-
- Primary immunodeficiency or monogenic inflammatory bowel disease
- Bleeding and platelet disorders
- Haematological malignancies cancer susceptibility
- Intestinal failure or congenital diarrhoea
- Inherited bleeding disorders
- Fetal anomalies
- Gastrointestinal epithelial barrier disorders
- COVID-19 research
- Infantile enterocolitis & monogenic inflammatory bowel disease
History Filter Activity
panel promoted to version 1
Louise Daugherty (Genomics England Curator)Revised 19 December 2016
Added New Source
Louise Daugherty (Genomics England Curator)STXBP2 was added to Inherited bleeding disorderspanel. Source: Expert Review Green
Created
Ellen McDonagh (Genomics England Curator)STXBP2 was created by ellenmcdonagh
Added New Source
Ellen McDonagh (Genomics England Curator)STXBP2 was added to Inherited bleeding disorderspanel. Sources: BRIDGE Study Tier 1 Gene